(Q35878288)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

review article

1 reference

title

Diagnosis of lysosomal storage disorders: current techniques and future directions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Michael J Fietz

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

1 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

1 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

677-691

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Low arylsulphatase A activity in the development of psychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.5.677

21 January 2018

Identifiers

DOI

10.1586/14737159.4.5.677

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15347261%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference